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J R Soc Med. 1992; 85(Suppl 19): 2–5.
PMCID: PMC1295445

The biochemical defect in cystic fibrosis.

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Selected References

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  • Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M, Rozmahel R, Cole JL, Kennedy D, Hidaka N, et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science. 1989 Sep 8;245(4922):1059–1065. [PubMed]
  • Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989 Sep 8;245(4922):1066–1073. [PubMed]
  • Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC. Identification of the cystic fibrosis gene: genetic analysis. Science. 1989 Sep 8;245(4922):1073–1080. [PubMed]
  • DI SANT'AGNESE PA, DARLING RC, PERERA GA, SHEA E. Abnormal electrolyte composition of sweat in cystic fibrosis of the pancreas; clinical significance and relationship to the disease. Pediatrics. 1953 Nov;12(5):549–563. [PubMed]
  • Quinton PM. Chloride impermeability in cystic fibrosis. Nature. 1983 Feb 3;301(5899):421–422. [PubMed]
  • Knowles MR, Stutts MJ, Yankaskas JR, Gatzy JT, Boucher RC., Jr Abnormal respiratory epithelial ion transport in cystic fibrosis. Clin Chest Med. 1986 Jun;7(2):285–297. [PubMed]
  • Gregory RJ, Cheng SH, Rich DP, Marshall J, Paul S, Hehir K, Ostedgaard L, Klinger KW, Welsh MJ, Smith AE. Expression and characterization of the cystic fibrosis transmembrane conductance regulator. Nature. 1990 Sep 27;347(6291):382–386. [PubMed]
  • Anderson MP, Rich DP, Gregory RJ, Smith AE, Welsh MJ. Generation of cAMP-activated chloride currents by expression of CFTR. Science. 1991 Feb 8;251(4994):679–682. [PubMed]
  • Rich DP, Gregory RJ, Anderson MP, Manavalan P, Smith AE, Welsh MJ. Effect of deleting the R domain on CFTR-generated chloride channels. Science. 1991 Jul 12;253(5016):205–207. [PubMed]
  • Sorscher EJ, Kirk KL, Weaver ML, Jilling T, Blalock JE, LeBoeuf RD. Antisense oligodeoxynucleotide to the cystic fibrosis gene inhibits anion transport in normal cultured sweat duct cells. Proc Natl Acad Sci U S A. 1991 Sep 1;88(17):7759–7762. [PubMed]
  • Boucher RC, Stutts MJ, Knowles MR, Cantley L, Gatzy JT. Na+ transport in cystic fibrosis respiratory epithelia. Abnormal basal rate and response to adenylate cyclase activation. J Clin Invest. 1986 Nov;78(5):1245–1252. [PMC free article] [PubMed]
  • Cotton CU, Stutts MJ, Knowles MR, Gatzy JT, Boucher RC. Abnormal apical cell membrane in cystic fibrosis respiratory epithelium. An in vitro electrophysiologic analysis. J Clin Invest. 1987 Jan;79(1):80–85. [PMC free article] [PubMed]
  • Knowles MR, Stutts MJ, Spock A, Fischer N, Gatzy JT, Boucher RC. Abnormal ion permeation through cystic fibrosis respiratory epithelium. Science. 1983 Sep 9;221(4615):1067–1070. [PubMed]
  • Duszyk M, French AS, Man SF. Cystic fibrosis affects chloride and sodium channels in human airway epithelia. Can J Physiol Pharmacol. 1989 Oct;67(10):1362–1365. [PubMed]
  • Cuthbert AW, Brayden DJ, Dunne A, Smyth RL, Wallwork J. Altered sensitivity to amiloride in cystic fibrosis. Observations using cultured sweat glands. Br J Clin Pharmacol. 1990 Feb;29(2):227–234. [PMC free article] [PubMed]
  • Knowles MR, Church NL, Waltner WE, Yankaskas JR, Gilligan P, King M, Edwards LJ, Helms RW, Boucher RC. A pilot study of aerosolized amiloride for the treatment of lung disease in cystic fibrosis. N Engl J Med. 1990 Apr 26;322(17):1189–1194. [PubMed]
  • App EM, King M, Helfesrieder R, Köhler D, Matthys H. Acute and long-term amiloride inhalation in cystic fibrosis lung disease. A rational approach to cystic fibrosis therapy. Am Rev Respir Dis. 1990 Mar;141(3):605–612. [PubMed]
  • Mason SJ, Paradiso AM, Boucher RC. Regulation of transepithelial ion transport and intracellular calcium by extracellular ATP in human normal and cystic fibrosis airway epithelium. Br J Pharmacol. 1991 Jul;103(3):1649–1656. [PMC free article] [PubMed]
  • Knowles MR, Clarke LL, Boucher RC. Activation by extracellular nucleotides of chloride secretion in the airway epithelia of patients with cystic fibrosis. N Engl J Med. 1991 Aug 22;325(8):533–538. [PubMed]
  • Cutting GR, Kasch LM, Rosenstein BJ, Tsui LC, Kazazian HH, Jr, Antonarakis SE. Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease. N Engl J Med. 1990 Dec 13;323(24):1685–1689. [PubMed]

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